Thursday, July 11, 2013

Let’s Get the Facts Straight: a Rebuttal to Myriads Claims on Gene Patents

Common Myths and Facts About Gene Patents - Myriad Genetics, 2013

Myth #1: I heard that someone could patent my genes.

Myriad Fact: No one can patent anyone’s genes. Genes consist of DNA that is naturally occurring in a person’s body and as products of nature are not patentable. In order to unravel the mysteries of what genes do, researchers have had to separate them from the rest of the DNA by producing man-made copies of only that portion of the gene that provides instructions for making proteins (only about 2% of the total DNA in your body). These man-made copies, called “isolated DNA,” are unique chemical compositions not found in nature or the human body. The U.S. Patent and Trademark Office has been granting patents on “isolated DNA” to universities, hospitals, patient advocacy groups and companies for over 30 years. In fact, most isolated DNA patents were granted to research institutions rather than companies. These patents provide incentive for pharmaceutical, biotechnology and diagnostic companies to invest the hundreds of millions of dollars and decades of time to develop ground-breaking medicines and diagnostics that have saved and enhanced countless lives.

FACT: Prior to the Supreme Court ruling of June 13, 2013, Myriad held patents on the BRCA1 and BRCA2 genes themselves, including the genetic sequence, mutations along the genes and any method for locating mutations on the gene. These patents, like other patents, were granted for 20 years. These patents restricted other scientists from any research involving these genes and from others being able to develop or offer alternate testing.
While pharmaceutical, biotechnology and diagnostic companies do invest time and money to develop new medicines and diagnostics, more than five million dollars of federal tax money funded the discovery of the BRCA1 gene specifically. Furthermore, studies have shown that financial incentives are not needed to fuel scientific research in this area. In fact, the Human Genome Project sequenced the entire human genetic sequence and did not patent any of the genes it identified.

Myth #2: I can’t get a second opinion because of gene patents.

Myriad Fact: Since 1999, many laboratories have performed genetic testing to confirm breast cancer hereditary risk results. Today, you can get second opinion testing from the UCLA Diagnostic Molecular Pathology Laboratory, University of Pittsburgh Medical Center, University of Chicago Genetic Services Laboratory, University of California San Francisco Molecular Diagnostic Laboratory, Fox Chase Cancer Center, and University of North Carolina Hospitals.

FACT: While the presence of a mutation in a BRCA gene or a “positive” test result, could be confirmed by other laboratories, there was no alternative test to confirm a negative test (and the vast majority of patients test negative, meaning no mutations are found in BRCA1 or BRCA2). In fact, for years Myriad provided many patients with “negative” results on their ‘Comprehensive’ BRACAnalysis when they actually harbored harmful BRCA mutations. In 2001, European researchers identified several mutations that Myriad’s test failed to find. An estimated 12% of women received erroneous negative test results on the ‘Comprehensive’ BRACAnalysis when in fact they carried a cancer-predisposing change in one of their BRCA genes. These “false negative” test results have literally cost the lives of women who were under the mistaken impression that they were not at increased risk to develop a deadly cancer. Myriad then waited years before offering their BART testing (for an additional cost of $700) to detect these changes.

Myth #3: Gene patents restrict access to genetic testing.

Myriad Fact: Because of the incentives provided by patents, companies invest millions of dollars in clinical studies that are essential for obtaining insurance coverage. For Myriad tests, approximately 95% of all appropriate patients have access to breast cancer susceptibility testing through private insurance, Medicare, Medicaid or Myriad’s Financial Assistance Program. Under our Financial Assistance Program, we test low-income, uninsured patients at no charge and have provided free testing to over 5,000 patients just in the past 3 years.

FACT: Myriad’s claim that 95% of all appropriate patients have access to testing through private insurance is deceptive, as some insurance companies do not consider women without a personal diagnosis of breast or ovarian cancer to be “appropriate” for testing. Women who are at high-risk based on their family histories may not meet insurance criteria for coverage. Their only alternatives are to pay themselves for Myriad’s test, which is prohibitively expensive for many, or forgo testing.
Also, many patients who do not meet insurance criteria are counseled as such before testing, and their DNA is never sent to Myriad. Therefore, Myriad has no idea how many appropriate patients are unable to have the testing they need.
The criteria for Myriad’s financial assistance program are extremely stringent and based on the U.S. Department of Health and Human Services poverty guidelines thereby excluding many women who need the test, live above “poverty” but can not afford the $4000 price tag. Myriad has deemed that the “neediest” of patients, those who are recipients of government funded programs (i.e., Medicaid, Medicare) or those that have any third-party insurance are not eligible to apply for their assistance program.
There are also medical criteria that patients must meet to apply for the financial assistance program and many at-risk women who are not currently affected with cancer would not meet the medical criteria even if they were to be impoverished enough to meet Myriad’s financial criteria. Individuals who can not afford the test but do not meet the criteria for financial assistance have no other options as Myriad has prevented any other option from existing.

Myth #4: Patented products are more expensive.

Myriad Fact: No, not according to scientific studies conducted by independent researchers. A study published in Genetics in Medicine found that, “Prices for BRCA1 and BRCA2 testing do not reflect an obvious price premium attributable to exclusive patent rights.” The Health and Human Services SACGHS’ Committee released its report on gene patents clearly stating: “The per-unit price of the full-sequenced BRAC test, which often is cited as being priced very high, was actually quite comparable to the price of full-sequence tests done on colon cancer for which associated patents are non-exclusively licensed.” Additionally, the total average out-of-pocket cost for patients taking a Myriad test is less than $100.

FACT: The current cost of BRCA1 and BRCA2 testing through Myriad is more $4000. In 1998, when the technology used to perform this test was newer and more expensive, academic laboratories were charging $1600. However, the company owning these genes continued to charge more money for a test that became progressively less expensive to perform. In fact, the cost of the DNA sequencing technology used has plummeted in the past 15 years. In the 1998 documentary film, In the Family, Joanna Rudnick, a BRCA carrier, speaks to Myriad’s owner and asks him directly why the price of the test is increasing when the cost of the technology used is decreasing. “That’s a good question,” he answers. He continues by saying, “I think there’s a point at which we have to start looking at decreasing the costs of the test.” That interview was in 1998, more than 15 years ago. Apparently Myriad does not feel that they have arrived at the “point” to consider decreasing the costs. They haven’t needed to. A complete monopoly means no free market competition.

Myth #5: Gene patents hinder research.

Myriad Fact: Actually patents do just the opposite; they facilitate research and ensure that there is full disclosure of new discoveries. Since the discovery of the BRCA genes more than 18,000 scientists have studied them, publishing more than 9,000 research papers. This makes the BRCA genes some of the most widely studied genes in the world. Myriad actually fostered and encouraged research around the BRCA genes by providing testing at cost to any researcher funded by the National Cancer Institute.

FACT: Not only did Myriad hold the patents on these two genes but also they also aggressively enforced their ownership rights. Myriad sent “cease-and-desist” letters to scientists researching these genes and laboratories who were providing diagnostic tests to their patients. Studies have shown that more than 50% of genetic labs have stopped research due to concerns about patented genes. This is the definition of hindering research.
Gene patents also interfere with research studying the influence of other genes and environmental factors towards the development of disease. Researchers have not been able to study how the BRCA genes may interact with other genes or with outside environmental factors, as that would entail examining the BRCA gene itself, which was prohibited by Myriad.

Aaron S. Kesselheim and Michelle Mello. (2010) Gene Patenting – Is the Pendulum Swinging Back? New England Journal of Medicine 362:1855-58
Ellen Matloff and Arthur Caplan. (2008) Direct to Confusion: Lessons Learned from Marketing BRCA Testing. The American Journal of Bioethics 8(6):5-8
Eric Hoffman. (2011) Why Gene Patents Are Bad for Patients and Science.
Robert Dalpe et al., Watching the Race to Find the Breast Cancer Genes. Science, Technology, & Human Values 28(2): 187-216
Ellen Matloff and Karina Brierley. (2010) The double-helix derailed: the story of the BRCA patent. The Lancet 376:314-15
Mildred K. Cho et al., Effects of Patents and Licenses on the Provision of Clinical Genetic Testing Services. Journal of Molecular Diagnostics 5(1):3-8
Wetterstrand KA. DNA Sequencing Costs: Data from the NHGRI Large-Scale Genome Sequencing Program Available at